X-linked myotubular myopathy is a rare genetic disease that affects 1 child per 50,000. It is a neuromuscular disease that only affects males and manifests itself from birth. The newborn is weak and struggles to breathe. In some cases, there are even prenatal symptoms, such as the almost absence of fetal movements.
After an initial clinical observation, the child's chest radiograph is taken. This reveals the thinning of the ribs. Other indications are the excessive body length, the skull too large, the paralysis of the muscles of the eyeballs. Some patients experience vascular lesions at the level of the liver and a thickening of the pyloric channel, but only in those who live longer.
Most of the healthy women carriers are asymptomatic, except for some small clues. Healthy carriers tend to be weak and may experience urinary incontinence. This is due to a smooth muscle involvement.
Myotubular myopathy is caused by mutations in the myotubularin gene. Diagnosis is based on clinical analyzes, muscle biopsies and genetic tests. If there are cases among the known relatives, the doctors recommend genetic counseling to the whole family.
Unfortunately, to date there is no decisive cure or effective treatment. Doctors attempt a multidisciplinary approach, at least to stem the symptoms of the disease. Even in this way, the course proves to be fatal in the first months of life. However, it happens that some subjects manage to reach adolescence, thanks to medical interventions and ventilation.
Source: orpha. net